Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis
0.790 GeneticVariation UNIPROT The diagnosis of desmosterolosis was established by detection of significant elevation of plasma desmosterol levels and reduced enzyme activity of DHCR24 upon expression of the patient's DHCR24 cDNA in yeast. 21671375

2011

Entrez Id: 1718
Gene Symbol: DHCR24
DHCR24
CUI: C1865596
Disease: Desmosterolosis
Desmosterolosis
0.790 GeneticVariation UNIPROT Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24. 11519011

2001